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Congenital Bone & Joint Diseases

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Congenital Bone & joint Diseases By Dr.Abdullah bin Habeeballah bin Abdullah Juma F.R.C.S.Ed Associate Professor & Consultant Orthopaedic Surgeon
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Page 1: Congenital Bone & Joint Diseases

Congenital Bone & joint Diseases

By

Dr.Abdullah bin Habeeballah bin Abdullah Juma

F.R.C.S.Ed

Associate Professor & Consultant Orthopaedic Surgeon

Page 2: Congenital Bone & Joint Diseases

Introduction

1. Genetic aspects of orthopaedics.

2. Bone Dysplasias.

3. Neuromuscular Diseases.

4. The Spine.

5. The Hip.

6. The Knee.

7. The Foot.

Page 3: Congenital Bone & Joint Diseases

Continue………

8. Other Anomalies in the Extremities .

9. The Congenital Amputee .

10.Torsional deformities .

11.Juvenile Chronic Arthritis.

12.Bleeding Disorders.

13.Miscellaneous Conditions.

Page 4: Congenital Bone & Joint Diseases

1. Genetic Aspects of Orthopaedics

• Abnormalities of skeletal development can be of unknown aetiology , or attributed to genetic abnormality due to structural changes in the chromosomes. The basic genetic principles are important to understand and apply clinically. These are the guide lines for these complex clinical conditions.

Page 5: Congenital Bone & Joint Diseases

Basic genetic principles :

• Chromosomes aggregate to form nucleus.• Chromosomes can be seen individually

during cell division by a special staining.• Normal no. of chromosomes is 46 (Diploid

no.) including sex chromosomes (X & Y).• No. of chromosomes at cell division is 23

(Haploid no.) and form gametes, 22 pairs are autosomes & 1 pair is sex type.

Page 6: Congenital Bone & Joint Diseases

• Each chromosome consists of DNA molecules embedded in protein matrix.

• Each DNA molecule consists of groups of polypeptide chains of a double helix .

• Each group of polypeptide chains form a gene. The corresponding gene at the opposite locus of the paired chromosome is known as an allele.

Page 7: Congenital Bone & Joint Diseases

• If the members of a pair of alleles are identical , the person is known as Homozygous , and if different then he is Heterozygous.

• Chromosomal abnormalities can be numerical and structural.

• Numerical abnormalities occur due to changes in no. of chromosomes due to failure of paired chromosomes to separate at the anaphase of cell division.

Page 8: Congenital Bone & Joint Diseases

• Numerical abnormalities of multiples of haploid no. of gametes produce polypoid cells , e.g. trisomy ( of 21 in Down’s syndrome) .

Page 9: Congenital Bone & Joint Diseases

• Structural Abnormalities occur during disjunction and recombination due to breakage or deletion of part of a chromosome or translocation.

( Translocation arise when the position of a portion of a chromosome becomes changed & doesn't recombine opposite it’s homologue,e.g.Cri du chat syndrome ).

Page 10: Congenital Bone & Joint Diseases

Structural changes are caused by :

• Normal event .

• Irradiation .

• Virus infection .

• Late maternal age .

• Other agents .

Page 11: Congenital Bone & Joint Diseases

• In the genetic aspects of orthopaedics , the pattern of inheritance is clinically recognizable as an expression of the phenotype and known as penetrance .

• The degree of phenotypic presentation is called expression of the gene .

Page 12: Congenital Bone & Joint Diseases

Genetic Aspects

• A. A single gene disorder .

• B. A multi-factorial disorder .

Page 13: Congenital Bone & Joint Diseases

A. Single Gene Disorders

• Due to a single abnormal gene .

• This is the largest group of orthopaedic anomalies with a known genetic basis.

• Classification : can be Dominant or Recessive according to the pattern of inheritance .

Page 14: Congenital Bone & Joint Diseases

Classification of single gene disorders

• Dominant : the abnormal single gene is expressed whether it is homozygous or heterozygous. This can be either Autosomal or X – linked .

• Recessive : the abnormal single gene is expressed only when homozygous. This can be either Autosomal or X-linked.

Page 15: Congenital Bone & Joint Diseases

Autosomal Dominant Inheritance

• Male & Female are equally affected.

• The chance of producing affected progeny is 50% in a mating between an affected and non-affected person .

• Unaffected offspring will not inherit the abnormal gene .

Page 16: Congenital Bone & Joint Diseases

Autosomal Recessive Inheritance• The abnormal gene comes from both parents ,

although they are clinically normal . The carrier is in a state of heterozygous.

• The chance of 2 parents being heterozygous for such abnormal gene is greater if they have a common ancestry such as consanguineous marriages . Their offspring will be ; ¼ diseased ( homozygous ) , 2/4 carrier ( heterozygous ) & ¼ normal .

Page 17: Congenital Bone & Joint Diseases

X-linked Dominant Inheritance

• Very rare .

• The affected father transmits the disease to all his daughters & none to his sons .

• The affected mother pass trait to ½ of her daughters & ½ of her sons .

• Example : Vit.D Resistant Rickets .

Page 18: Congenital Bone & Joint Diseases

X-linked Recessive Inheritance

• The abnormal recessive gene is carried on X chromosome & will be expressed in the presence of a Y chromosome (Hemizygous) . Hence male is diseased & female is a carrier .

Page 19: Congenital Bone & Joint Diseases

• An affected male will transmit a Y chromosome to his sons & therefore will not be affected and X chromosome to his daughters & therefore will be carriers.

• If affected male marry a carrier female then ½ of their daughters will be affected (Hemizygous) & ½ of daughters will be carriers .

Page 20: Congenital Bone & Joint Diseases

Genetic Aspects

• A. A single gene disorder .

• B. A multi-factorial disorder .

Page 21: Congenital Bone & Joint Diseases

B. Multi-factorial Inheritance

• Some orthopaedic conditions have a familial predisposition BUT no clear inheritance .

• Hence , both genetic & environmental factors combine to present those anomalies .

• Examples : Spina Bifida & anencephaly , C.T.E.V. , Perthes’ Disease and A.I.S.

Page 22: Congenital Bone & Joint Diseases

Spina Bifida & Anencephaly

• The risk of recurrence after the 1st affected child is ;

3 - 6 %

• The risk of recurrence after the 2nd affected child is ;

10 %

Page 23: Congenital Bone & Joint Diseases

Congenital Talipes Equino-Varus deformity (C.T.E.V.)

• The risk of recurrence after the 1st affected child is ;

< 5 %

• The risk of recurrence after the 2nd affected child or one parent affected is;

20 %

Page 24: Congenital Bone & Joint Diseases

Legg-Calve-Perthes’ Disease

The risk factors are :

• Low socio-economical class .

• Children born 3d or later .

• Elder parents .

• Fetal mal-position .

Page 25: Congenital Bone & Joint Diseases

Adolescent Idiopathic Scoliosis (A.I.S. )

• This type of spinal abnormality occurs in the coronal plane of the spine .

• It appears in the adolescent phase and more commoner in female .

• No identifiable cause , but it shows a strong familial tendency .

Page 26: Congenital Bone & Joint Diseases

Introduction

1. Genetic aspects of orthopaedics.

2. Bone Dysplasias .

3. Neuromuscular Diseases.

4. The Spine.

5. The Hip.

6. The Knee.

7. The Foot.

Page 27: Congenital Bone & Joint Diseases

2. Bone Dysplasias

• Uncommon .• 2 types : Generalized ( Dysplasias ) &

Localized ( Dysostosis ) .• Growth disturbance can be in the

Epiphysis , Metaphysis or Vertebrae .• Dwarfism is a pathological diminution of

height below the normal range of population .

Page 28: Congenital Bone & Joint Diseases

Investigations & Diagnosis of Bone Dysplasias

• Clinical Examination for deformity , disproportion , height , span , eye & ear exam , I.Q.

• Radiological Examination of skull (always) & skeletal survey .

• Biochemical investigations such as urinalysis as in Mucopolysaccharidoses .

Page 29: Congenital Bone & Joint Diseases

• Family study of pedigree & pattern of inheritance .

• Other investigations such as histology , histochemical study , amniocentesis at 16/52 weeks , foetoscopy , endoscopy , level of alpha-fetoprotein and ultrasound.

Page 30: Congenital Bone & Joint Diseases

Classification of Bone Dysplasias

Authors who contributed in classification of bone Dysplasias :

• Sir Thomas Fairbank “ An Atlas of General Affections of the Skeleton”

• Weiderman & Langer .. Germany• Lammy & Maroteaux .. France• McKusick .. USA• Waynne – Davies .. UK

Page 31: Congenital Bone & Joint Diseases

• Rubin 1964 , wrote “ Dynamic Classification of Bone Dysplasias” based on the anatomical site of the abnormality: epiphysis , growth plate , metaphysis , or diaphysis .

• European Society of Paediatric Radiology in Paris ,1969,publishing “ International

Nomenclature of Constitutional Disorders of Bone “ 1970 .

Page 32: Congenital Bone & Joint Diseases

• F.T.Horan wrote , a simple classification in the Postgraduate Textbook of Clinical Orthopaedics .

• This classification was simplified for the sake of description and understanding , but the subject is so complex that needs continuous updating and revision .

Page 33: Congenital Bone & Joint Diseases

A simple Classification of Bone Dysplasias

• 1. Dwarfism .

• 2. Disorders around growth plate ;

a. Predominantly epiphyseal

b. Predominantly metaphysial

c. Predominantly vertebrae

Page 34: Congenital Bone & Joint Diseases

Continue…Classification of Bone Dysplasia

• 3. Changes in bone density ; increased vs. decreased• 4. Craniotubular disorders .• 5. Craniofacial abnormalities .• 6. Vertebral anomalies .• 7. Lysosomal storage disorders .• 8. Abnormalities of cartilage & fibrous

tissues .• 9. Miscellaneous disorders .

Page 35: Congenital Bone & Joint Diseases

A simple Classification of Bone Dysplasias

• 1. Dwarfism .

• 2. Disorders around growth plate ;

a. Predominantly epiphyseal

b. Predominantly metaphysial

c. Predominantly vertebrae

Page 36: Congenital Bone & Joint Diseases

1. Dwarfism : 2 types

• Proportionate :

There is equal involvement of all bony segments . The patient presents with a short stature in a miniature scale as seen in the circus .

• Disproportionate :

This is of 2 types ;

1. Short limb Dwarf

2. Short trunk Dwarf• Both types show

atypical phenotypes and clinically obvious as atypical dwarf .

Page 37: Congenital Bone & Joint Diseases

A simple Classification of Bone Dysplasias

• 1. Dwarfism .

• 2. Disorders around growth plate ;

a. Predominantly epiphyseal

b. Predominantly metaphysial

c. Predominantly vertebrae

Page 38: Congenital Bone & Joint Diseases

2. Disorders around the growth plate : 3 groups

A. The epiphyseal side of the growth plate is principally involved leading to failure to produce a normal ossific nucleus .

B. The metaphysial side of the growth plate is principally involved leading to failure of endochondral bone formation .

C. The vertebral growth is mainly involved in association with abnormality of epiphysis or metaphysis .

Page 39: Congenital Bone & Joint Diseases

A simple Classification of Bone Dysplasias

• 1. Dwarfism .

• 2. Disorders around growth plate ;

a. Predominantly epiphyseal

b. Predominantly metaphysial

c. Predominantly vertebrae

Page 40: Congenital Bone & Joint Diseases

A. Predominantly Epiphyseal Involvement :

1. Multiple Epiphyseal Dysplasia( MED ) :

• Autosomal Dominant .

• Most forms give little problems .

• Symptoms arise from premature degenerative changes in the weight bearing joints in adults .

Page 41: Congenital Bone & Joint Diseases

2. Chondrodysplasia Punctata ( Stippled Epiphysis ) :

• Autosomal dominant .• Severe form is autosomal recessive .• 2 main forms ; *a. Majority have flat face , depressed nasal bridge , atrophic skin , cataracts , joint contractures , scoliosis , asymmetrical limb shortening & stippling of epiphysis of long bones up to the age of 4 . * b. Conradi – Hunnermann . The affected infant is stillborn .

Page 42: Congenital Bone & Joint Diseases

NOTE :

• Stippling of epiphysis can occur in ;

Multiple Epiphyseal Dysplasia .

Spondylo – Epiphyseal Dysplasia .

Hypothyroidism .

Fetal Warfarin Syndrome .

Page 43: Congenital Bone & Joint Diseases

A simple Classification of Bone Dysplasias

• 1. Dwarfism .

• 2. Disorders around growth plate :

a. Predominantly epiphyseal

b. Predominantly metaphysial

c. Predominantly vertebrae

Page 44: Congenital Bone & Joint Diseases

B. Predominantly Metaphyseal Involvement :

1. Achondroplasia .

2. Hypochondroplasia .

3. Metaphyseal Chondroplasia .

4. Familial Hypophosphataemia

( Vitamin D – Resistant Rickets )

Page 45: Congenital Bone & Joint Diseases

1. Achondroplasia

• 80% result from new mutation .

• Autosomal dominant .

• Commonest form of dwarfism .

• Disproportionate type of dwarfism . Short – limb dwarf & proximal segments are particularly affected .

• Apparent at birth .

Page 46: Congenital Bone & Joint Diseases

• Metaphyseal abnormalities predominate .

• Some spinal involvement .

• Forehead prominent .

• Nasal bridge depressed .

• Fingers are short & stubby with a trident appearance .

• Walk late .

Page 47: Congenital Bone & Joint Diseases

• Prominent abdomen .

• Hip flexion contracture .

• Genu varus deformity late in childhood .

• Valgus deformity of the ankle joint .

• Lumbar lordosis .

• Mid spinal kyphosis in infancy & disappears after walking .

Page 48: Congenital Bone & Joint Diseases

X –Rays :

• Calvarium is large .

• Base of skull is underdeveloped .

• Limbs are short , wide , irregular metaphyses but epiphyses are normal .

• Pelvis shows squared iliac wings & small greater sciatic notches .

Page 49: Congenital Bone & Joint Diseases

• Narrow spinal canal .

• Pedicles are short & inter – pedicular space is reduced .

• Surgery will be required to correct deformities and decompress the spine if symptoms arise .

• Family counseling is needed .

Page 50: Congenital Bone & Joint Diseases

B. Predominantly Metaphyseal Involvement :

1. Achondroplasia .

2. Hypochondroplasia .

3. Metaphyseal Chondroplasia .

4. Familial Hypophosphataemia

( Vitamin D – Resistant Rickets )

Page 51: Congenital Bone & Joint Diseases

2. Hypochondroplasia

• Autosomal dominant .

• Distinct genetically from achondroplasia .

• The cranium,facies & fingers are normal.

• Stature less stunted .

• Spinal changes are less .

• Clinical stigmata are minimal & not easily diagnosed .

Page 52: Congenital Bone & Joint Diseases

X –Rays :

. Pelvis shows horizontal sacrum & short femoral necks .

Page 53: Congenital Bone & Joint Diseases

B. Predominantly Metaphyseal Involvement :

1. Achondroplasia .

2. Hypochondroplasia .

3. Metaphyseal Chondroplasia .

4. Familial Hypophosphataemia

( Vitamin D – Resistant Rickets )

Page 54: Congenital Bone & Joint Diseases

3. Metaphyseal Chondrodysplasia• Autosomal dominant .

• Types : Schmid , Jansen & McKusick (Cartilage Hair Hypoplsia) .

• Schmid type ( commonest ) ;

Short stature .

Bow legs .

Bilateral Coxa Vara .

Lordotic lumbar spine .

Page 55: Congenital Bone & Joint Diseases

B. Predominantly Metaphyseal Involvement :

1. Achondroplasia .

2. Hypochondroplasia .

3. Metaphyseal Chondroplasia .

4. Familial Hypophosphataemia

( Vitamin D – Resistant Rickets )

Page 56: Congenital Bone & Joint Diseases

4. Familial Hypophosphataemia( Vitamin-D Resistant Rickets )

• X-linked dominant trait .

• Metabolic disease .

• Deformity of lower limbs ;

Bow legs .

Knock knees .

Windswept deformity .

• Skeletal deformities are progressive .

Page 57: Congenital Bone & Joint Diseases

X – Rays :

. Wide irregular metaphysis .

. Normal epiphysis .

. Osteoporosis .

. Pseudo-fractures .

Page 58: Congenital Bone & Joint Diseases

A simple Classification of Bone Dysplasias

• 1. Dwarfism .

• 2. Disorders around growth plate :

A. Predominantly epiphyseal

B. Predominantly metaphysial

C. Predominantly vertebrae

Page 59: Congenital Bone & Joint Diseases

C. Predominantly Vertebrae

1. Spondylo – Epiphyseal Dysplasia .

2. Pseudo – Achondroplasia .

3. Diastrophic Dysplasia .

4. Rare Syndromes .

Page 60: Congenital Bone & Joint Diseases

1. Spondylo – Epiphyseal Dysplsia.. 2 forms :

Congenita ;• Autosomal dominant• At birth• Short-trunk dwarf• Barrel chest• G.valgus&varus def.• Club foot• Cleft palate

Tarda ;• X-linked recessive• Less severe ,variable• Apparent later• Relative short trunk• Early O.A. of joints• Mild club foot• No cleft palate

Page 61: Congenital Bone & Joint Diseases

X – Rays :

• Epiphyses late• Vertebral bodies flat

(platyspondyly)• Odontoid process

hypoplastic leading to atlanto-axial instability

X –Rays :

• Mild dysplastic changes in the joints

• Platyspondyly with a hump in posterior / superior portion of vertebral body

Page 62: Congenital Bone & Joint Diseases

C. Predominantly Vertebrae

1. Spondylo – Epiphyseal Dysplasia .

2. Pseudo – Achondroplasia .

3. Diastrophic Dysplasia .

4. Rare Syndromes .

Page 63: Congenital Bone & Joint Diseases

2. Pseudo-Achondroplsia

• Heterogeneous of dominant & recessive .

• Short – limb dwarfism .

• Normal craniofacial appearance when compared with achondroplasia .

• Some spinal deformity .

• Genu varus & valgus deformity .

Page 64: Congenital Bone & Joint Diseases

X-rays :• Vertebral bodies are flat , biconvex &

have irregular end plates . Become normal towards puberty .

• Pelvis .. Hypo-plastic & flattened acetabulae .

• Epiphysis & metaphysis of long bones are abnormal .

• Tubular bones are short & broad .

Page 65: Congenital Bone & Joint Diseases

C. Predominantly Vertebrae

1. Spondylo – Epiphyseal Dysplasia .

2. Pseudo – Achondroplasia .

3. Diastrophic Dysplasia .

4. Rare Syndromes .

Page 66: Congenital Bone & Joint Diseases

3. Diastrophic Dysplasia

• Autosomal recessive .

• Appears at birth .

• Short limb dwarf .

• Joint contructures & stiff equinus deformity .

• Proximally set limbs ”hitchhiker”.

• Cystic swelling of pinnae .

Page 67: Congenital Bone & Joint Diseases

• Scoliosis is severe .

• Mentally normal .

• X-Rays : Kypho-scoliosis .

Epiphysis of long bones are flat .

Metaphysis are flared .

Phalanges , MC , MT are wide & short .

Acetabulae wide & femoral heads flat & irregular with varus neck .

Page 68: Congenital Bone & Joint Diseases

C. Predominantly Vertebrae

1. Spondylo – Epiphyseal Dysplasia .

2. Pseudo – Achondroplasia .

3. Diastrophic Dysplasia .

4. Rare Syndromes .

Page 69: Congenital Bone & Joint Diseases

4. Rare Syndromes• A. Metatropic Dysplasia.. Short limb

dwarf at birth and late in infancy short trunk dwarf due to rapidly progressive kyphoscoliosis .

• B. Spondylometaphyseal Dysplasia.. Common, heterogeneous , disproportionate short stature & x-rays of platyspondyly and metaphyseal irregularity .

• Kniest Dysplasia.. Rare & resembles metatropic dysplasia .

Page 70: Congenital Bone & Joint Diseases

Continue…Classification of Bone Dysplasia

• 3. Changes in bone density ;

increased vs. decreased• 4. Craniotubular disorders .• 5. Craniofacial abnormalities .• 6. Vertebral anomalies .• 7. Lysosomal storage disorders .• 8. Abnormalities of cartilage & fibrous tissues .• 9. Miscellaneous disorders .

Page 71: Congenital Bone & Joint Diseases

3. Changes in the Bone Density

• Increased :

A. Osteopetrosis …

Infantile .

Intermediate .

Tarda ( Adult ) .

B. Pycnodysostosis .

• Decreased :

Osteogenesis Imperfecta .

Page 72: Congenital Bone & Joint Diseases

Increased bone density… A.Osteopetrosis :

• Heterogeneous .

3 forms :

• Infantile … rare , stillbirth is common & surviving infants show anaemia , hepatosplenomegaly , cranial nerves palsy and delayed dentition .

• Intermediate … occurs sometimes .

• Tarda … adult form , autosomal dominant .

Page 73: Congenital Bone & Joint Diseases

Continue .. Osteopetrosis, tarda form

• Cranial nerves compression causing facial palsy & deafness .

• Pathological fractures .• Xrays : Thick calvarium with basal

sclerosis , vertebral end-plate sclerosis causing a banded appearance “the rugger-jersey” spine , cortices of long bones are widened & dense giving rise to an “endbone” or “ bone within bone” appearance.

Page 74: Congenital Bone & Joint Diseases

3. Changes in the Bone Density

• Increased :

A. Osteopetrosis …

Infantile .

Intermediate .

Tarda ( Adult ) .

B. Pycnodysostosis .

• Decreased :

Osteogenesis Imperfecta .

Page 75: Congenital Bone & Joint Diseases

Increased bone density… B.Pycnodysostosis

• Rare .• Short stature .• Generalized increase in bone density .• Face is small & triangular .• Mandible is under-developed with obtuse

angle • Hands are short & square with stubby

fingers .• Dentition is abnormal .• Pathological fractures .

Page 76: Congenital Bone & Joint Diseases

Xrays :

• Generalized sclerosis .

• Little abnormality of modelling .

• Skull..large calvarium , wide suture lines,persistant fontanelles , wormian bones , hypoplastic facial skeleton .

• Terminal phalanges are short & irregular .

• Madelung’s deformity .

Page 77: Congenital Bone & Joint Diseases

3. Changes in the Bone Density

• Increased :

A. Osteopetrosis …

Infantile .

Intermediate .

Tarda ( Adult ) .

B. Pycnodysostosis .

• Decreased :

Osteogenesis Imperfecta .

Page 78: Congenital Bone & Joint Diseases

Decreased bone density…Osteogenesis Imperfecta

• Bone fragility .

• Common bone dysplasia .

• Heterogeneous .

• 2 forms :

Congenita .

Tarda .

Page 79: Congenital Bone & Joint Diseases

Osteogenesis Imperfecta… 2 forms..

• Congenita : • Severe , stillbirth , or

early death.• Genetics uncertain ,

but some are autosomal recessive & some are new mutations .

• Head large , soft calvarium & wide fontanelles .

• Tarda :• Less severer . Can

continue to adult life.• Majority autosomal

dominant but some are heterogeneous & genetics are obscure and can be difficult .

• Multiple fractures which heal rapidly & bruising tendency .

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Osteogenesis Imperfecta..continue Congenita….• Disproportionate

shortening of limbs .• Xrays : skull has

poor ossification , wide sutures & many wormian bones . Multiple fractures , spinal deformity with biconcave or flattened vertebrae . Limbs are short & wide or slender & narrow .

Tarda ... • Sclerae blue , poor

dentition & laxity of ligaments .

• Xrays : skull , multiple fractures , spinal deformity and abnormal limbs are the same as in the congenita .

Page 81: Congenital Bone & Joint Diseases

4.Cranio-tubular Disorders


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